Becoming a parent is a significant life transition accompanied by various experiences and emotions that may be both fulfilling and rewarding, as well as challenging and stressful for both the mother and father. Mercer's theory of becoming a mother provides a framework for mothers' adaptation and role attainment throughout the perinatal period. However, a theoretical gap exists surrounding fathers' adaptability and role attainment, as fathers are frequently forgotten, and their experiences are overlooked. Although becoming a father can be a rewarding or satisfying experience that results in positive changes in men's lives, some fathers experience concerns and contradictions as a result of a shift in their roles, responsibilities, and social expectations, which result in maladaptation and mental health challenges. Given the significance of fathers in the family, community, and society, this concept analysis aimed to bridge the gap by proposing a theory that will guide fathers in successfully adapting to and reaching a solid role identity. The concept analysis methodology from Walker and Avant (2011) was utilized to define the concept of paternal adaptation and role attainment, attributes, antecedents, consequences, cases, and empirical referents. This paper concludes that perinatal fathers' adaptability and role attainment improve psycho-emotional, cognitive, relational, and behavioral outcomes, improving paternal-maternal-infant quality of life and developmental products when influenced by positive personal resources, adequate family, friends support, and community resources. Given the implications of paternal maladaptation on the family, a theoretical framework for fathers is crucial. Hence, the theory of paternal adaptation and role attainment is proposed.
Pregnancy ; Mothers ; Fathers ; Motivation

OBJECTIVE: To analyze variants of SMN gene in a Chinese pedigree affected with Spinal muscular atrophy (SMA). METHODS: A Chinese pedigree diagnosed at the Nanchang First Hospital in January 2020 was selected as the study subject. Peripheral blood samples were collected for the extraction of DNA. All exons of the SMN gene were detected by multiple ligation-dependent probe amplification (MLPA). Potential variants of the SMN gene were also detected by Whole exome sequencing (WES), and the result was verified by Sanger sequencing. cDNA extracted from fresh blood sample was used as a template to verify the location of variant on the SMN genes. RESULTS: The proband was found to harbor a heterozygous deletion of the SMN1 Exon7+Exon8, and a heterozygous c.81G>A variant. The SMN1 Exon7+Exon8 deletion was inherited from her father and grandmother, whilst the c.81G>A variant was inherited from her mother and maternal grandfather. Her aunt was also a carrier of the heterozygous deletion, while her paternal aunt, her husband, and their daughter were not. cDNA amplification and Sanger sequencing confirmed that the c.81G>A variant was located in the SMN1 gene. CONCLUSION MLPA combined with NGS and Sanger sequencing can identify compound heterozygous variants of the SMN gene in the SMA patients.
Female ; Humans ; Male ; DNA, Complementary ; East Asian People ; Fathers ; Mothers ; Muscular Atrophy, Spinal/diagnosis* ; Pedigree ; Survival of Motor Neuron 1 Protein/genetics*

OBJECTIVES: To derive the paternity index (PI) calculation formula of the alleged father (AF) when the AF is a relative (parent/child, siblings, grandparent/grandchild, uncle/nephew, first cousins) of the child's biological mother. METHODS: For the case when the AF is related to the child's biological mother, the existence of the relationship in the numerator and denominator hypothesis of PI was considered. The genotype frequency of the AF was calculated by using the frequency formula in which the mother's genotype was considered, while the random male in the denominator was substituted as another relative of the mother's same rank. The PI calculation formula was derived to eliminate the effect of the relationship between AF and the child's biological mother. RESULTS: When the AF and the biological mother have first, second and tertiary kinship, a more conservative PI was obtained from the PI calculation formula derived in this study compared with the PI calculation method which did not consider kinship. CONCLUSIONS The calculation method provided in this study can eliminate the effect of the relation of the AF and mother on the PI in incest cases, to obtain more accurate and conservative identification conclusions.
Female ; Humans ; Male ; Child ; Paternity ; Mothers ; Genotype ; Fathers

BACKGROUND: Few prospective studies have investigated the association between paternal occupational exposures and risk of infant congenital heart defects (CHDs). We investigated the associations between paternal occupational exposures, frequency of use, and concurrent or sequential exposure to a mixture of compounds and the risk of infant CHDs. METHODS: Our study examined 28,866 participants in the Japan Environment and Children's Study. Logistic regression analysis was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) associated with paternal occupational exposures during the 3 months until pregnancy was noticed after adjustment for potential confounding factors of the infant CHDs. CHD diagnosis was ascertained from medical record. RESULTS: In total, 175 were diagnosed with infant CHDs. The number of fathers who were exposed to the following substances at least once a month were: 11,533 for photo copying machine/laser printer, 10,326 for permanent marker, 8,226 for soluble paint/inkjet printer, 6,188 for kerosene/petroleum/benzene/gasoline, 4,173 for organic solvents, 3,433 for chlorine bleach/germicide, 2,962 for engine oil, 2,931 for insecticide, 2,460 for medical sterilizing disinfectant, 1,786 for welding fumes, 1,614 for dyestuffs, 1,247 for any products containing lead-like solder, 986 for herbicide, 919 for radiation/radioactive substances/isotopes, 837 for lead-free solder, 341 for microbes, 319 for formalin/formaldehyde, 301 for agricultural chemical not listed above or unidentified, 196 for general anesthetic for surgery at hospital, 171 for anti-cancer drug, 147 for chromium/arsenic/cadmium, 88 for mercury and 833 for other chemical substances. Paternal occupational exposure regularly to photo copying machine or laser printer and soluble paint/inkjet printer were associated with higher risks of infant CHDs: the adjusted ORs (95%CIs) were 1.38 (1.00-1.91) and 1.60 (1.08-2.37), respectively. The higher risks were also observed for occasional exposure to engine oil, any products containing lead-like solder lead-free solder, and microbes; the adjusted ORs (95%CIs) were 1.68 (1.02-2.77), 2.03 (1.06-3.88), 3.45 (1.85-6.43), and 4.51, (1.63-12.49), respectively. CONCLUSIONS Periconceptional paternal occupational exposure was associated with a higher risk of infant CHDs. Further studies using biomarkers of the association between paternal occupational exposure and infant CHDs are warranted.
Male ; Humans ; Infant ; Child ; Japan/epidemiology* ; Prospective Studies ; Risk Factors ; Case-Control Studies ; Occupational Exposure/adverse effects* ; Heart Defects, Congenital/epidemiology* ; Fathers

Objective: To explore the role of parental reproductive age on the risk of overweight and obesity in offspring. Methods: The participants were derived from physical examination data of students aged 6-18 years in seven provinces in China, and questionnaire survey was used to collect demographic characteristics and lifestyle information of the students and their parents. A total of 41 567 children with complete data were included. According to the restricted cubic spline curve, maternal reproductive age was divided into three categories, 14-23, 24-28, and 29-38 years, and paternal reproductive age was divided into 14-23, 24-30, and 31-42 years. Multivariate logistic regression model was used to analyze the association between parental reproductive age and parental nutritional status and the risk of overweight and obesity in offspring. Results: The mean age of 41 567 children was (10.6±3.2) years, and the mean paternal and maternal age were (27.9±4.4) years and (25.8±4.0) years, respectively. The detection rate of overweight and obesity was 23.4%. After adjusting factors of children diet and behaviors, the OR(95%CI)of offspring overweight and obesity in groups of fathers aged 24-30 years and mothers aged 24-28 years was 1.11 (1.04-1.18) and 1.16 (1.08-1.24), respectively. When none parents were overweight and obese, the difference of obesity risk was not statistically significant. When both parents were overweight and obese, the OR(95%CI)of offspring overweight and obesity in groups of fathers aged 24-30 years and mothers aged 14-28 years old was 1.27 (1.00-1.62) and 1.33 (1.07-1.65) respectively. Conclusion: Parental reproductive age and parental overweight and obesity status may both increase the risk of overweight and obesity in offspring, with a significant interaction effect.
Adolescent ; Adult ; Child ; Fathers ; Female ; Humans ; Male ; Mothers ; Obesity/epidemiology* ; Overweight/epidemiology* ; Risk Factors ; Young Adult

OBJECTIVE: To explore the phenotypic characteristics of paternal chromosomal simplex 3q microduplication syndrome. METHODS: Amniotic fluid samples of 3 fetuses from a same couple were subjected to prenatal diagnosis through combined high-resolution chromosomal G-banding karyotyping and chromosomal microarray analysis (CMA). Peripheral blood samples were also collected the couple for the determination of parental origin. RESULTS: The karyotypes of all three fetuses were 46,XN,dup(3)(q25q26.1), and their CMA results were arr[hg19]3q25.33q26.1(159 336 333-166 924 969)×3. The duplication in the three fetuses have all derived from their father. No anomaly with found with the mother by CMA . CONCLUSION Through combined G-banded chromosomal karyotyping and CMA assay, a paternally derived 3q25.33-q26.1 microduplication has been identified, which has enabled genetic counseling for this couple.
Female ; Pregnancy ; Humans ; Male ; Prenatal Diagnosis ; Genetic Testing ; Fetus ; Syndrome ; Mothers ; Fathers

BACKGROUND: The prevalence of obesity and overweight in childhood has increased dramatically over the past decades globally. Thus, the risk factors of overweight and obesity in children and adolescents must be studied. OBJECTIVES: This study aimed to reveal the prevalence of childhood obesity and examine the relationship between socioeconomic status (SES) and z-body mass index (z-BMI) via parental obesity and dietary intake using path analysis. METHODS: Stratified cluster sampling was used to select 17,007 participants aged 6-12 years on two avenues per region in urban, suburban, and rural areas. Path analysis was conducted to examine the mediators between SES and z-BMI. RESULTS: The prevalence rates of overweight and obesity were 13.36% and 8.60%, respectively, and were positively correlated with the father's education level, family income, a birth weight > 3000g, a parental obesity history, vegetable intake and red meat intake (all P < 0.05). Four mediators (paternal obesity history, red meat intake, vegetable intake, and nutritional supplements) were observed, and the four path analyses were significant (all P < 0.05). The adjusted total effects on z-BMI were significant for income (β CONCLUSIONS The prevalence of overweight/obesity in children was notable, and the relationship between SES and z-BMI was mediated by paternal obesity history and dietary intake.
Child ; China/epidemiology* ; Cross-Sectional Studies ; Eating/psychology* ; Fathers/statistics & numerical data* ; Female ; Humans ; Male ; Obesity/psychology* ; Pediatric Obesity/etiology* ; Social Class

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report the case of a 22-month-old toddler who presented with growth retardation and delayed development. The patient exhibited the typical laboratory findings of VDDR1A, including hypocalcemia (calcium: 5.2 mg/dL), elevated serum level of alkaline phosphatase (2,600 U/L), elevated serum level of intact-parathyroid hormone (238 pg/mL), low 1,25(OH)₂D₃ level (11.2 pg/mL), and normal 25(OH)D₃ level (40.7 ng/mL). His height and weight were 76.5 cm and 9.5 kg, respectively (both <3rd percentile). The Bayley Scales of Infant and Toddler Development II indicated significantly delayed development (mental development index <50, psychomotor development index <50). The patient was a compound heterozygous for two novel pathogenic variants in the CYP27B1 gene: c.57_69del (p.Glu20Profs*2) and c.171dupG (p.Leu58Alafs*275), inherited from his mother and father, respectively. The patient showed remarkable improvement after treatment with calcitriol and calcium carbonate.
25-Hydroxyvitamin D3 1-alpha-Hydroxylase ; Alkaline Phosphatase ; Calcitriol ; Calcium Carbonate ; Databases, Genetic ; Fathers ; Humans ; Hypocalcemia ; Infant ; Mothers ; Rickets ; Vitamin D ; Vitamins ; Weights and Measures

Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused by thyroid dysgenesis and thyroid dyshormonogenesis. CH due to a TG gene mutation is one cause of thyroid dyshormonogenesis and can be characterized by goitrous CH with absent or low levels of serum thyroglobulin (Tg). In the present case, a 15-day-old neonate was referred to us with elevated thyroid stimulating hormone detected during a neonatal screening test. At the age of 34 months, extensive genetic testing was performed, including targeted exome sequencing for hypothyroidism, and revealed compound heterozygous mutations in the TG gene. Sanger sequencing of both parents’ DNA samples revealed a c.3790T> C (p.Cys1264Arg) mutation located at exon 17 inherited from the mother, and a c.4057C> T (p.Gln1353*) mutation located at exon 19 was inherited from the father. The c.4057C> T (p.Gln1353*) mutation located at exon 19 has never been reported and, therefore, is a new discovery. We report a case of primary permanent CH with compound heterozygous mutations of the TG gene, including a novel mutation.
Congenital Hypothyroidism ; DNA ; Exome ; Exons ; Fathers ; Genetic Testing ; Humans ; Hypothyroidism ; Incidence ; Infant ; Infant, Newborn ; Mothers ; Neonatal Screening ; Thyroglobulin ; Thyroid Dysgenesis ; Thyroid Gland ; Thyrotropin

PURPOSE: This study aimed to investigate the effects of a reinforcement program for behavioral skills in postpartum care for couples with their first baby. METHODS: The study used a non-equivalent control group and pretest-posttest design. It was conducted from January 14 to April 10, 2016 at a postpartum care center in D city. It analyzed 43 couples (22 in the experimental group and 21 in the control group.) For data analysis, descriptive statistics, test of homogeneity in pretest, independent t-tests, and repeated measures ANOVA were used. RESULTS: For maternal fulfillment of postpartum care and postpartum fatigue, there was no significant difference in the interaction between group and time. In terms of parent-newborns attachment, the interaction between group and time showed a significant difference for mothers (F=13.63, p=.001) and fathers (F=6.51, p=.001). In marital intimacy, the interaction between group and time showed a significant difference for mothers (F=14.40, p<.001) and fathers (F=9.46, p=.004). In parenting stress, the interaction between group and time showed a significant difference for mothers (F=31.8, p<.001) and fathers (F=11.69, p=.001). A significant difference was found for the mothers' postpartum sleeping hours (F=0.14 p=.004). CONCLUSION: This program for behavioral skills in postpartum care, which is based on the information-motivation-behavioral skills model, improves postpartum care, parent-newborn attachment, marital intimacy, parenting stress, and maternal postpartum sleeping, by reinforcing behavioral skills required for postpartum care.
Child ; Child Care ; Family Characteristics ; Fathers ; Fatigue ; Humans ; Mothers ; Parenting ; Parents ; Parturition ; Postnatal Care ; Postpartum Period ; Statistics as Topic